LARGE1 and muscular dystrophy-dystroglycanopathy: Recessive pathogenic variants in LARGE1 lead to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A6; MIM: 613,154) and muscular dystrophy-dystroglycanopathy (congenital with mental retardation type B6; MIM: 608,840).